OTSC10
MCID: OTS012
MIFTS: 16

Otosclerosis 10 (OTSC10)

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Otosclerosis 10

MalaCards integrated aliases for Otosclerosis 10:

Name: Otosclerosis 10 57 70
Otsc10 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family (last curated january 2014)


HPO:

31
otosclerosis 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615589
OMIM Phenotypic Series 57 PS166800
MedGen 41 C3888339
SNOMED-CT via HPO 68 11543004 263681008
UMLS 70 C3888339

Summaries for Otosclerosis 10

OMIM® : 57 Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement (summary by Schrauwen et al., 2011). (615589) (Updated 05-Apr-2021)

MalaCards based summary : Otosclerosis 10, also known as otsc10, is related to otosclerosis. An important gene associated with Otosclerosis 10 is OTSC10 (Otosclerosis 10). Affiliated tissues include bone, and related phenotype is otosclerosis.

Related Diseases for Otosclerosis 10

Diseases in the Otosclerosis family:

Otosclerosis 1 Otosclerosis 2
Otosclerosis 3 Otosclerosis 5
Otosclerosis 4 Otosclerosis 7
Otosclerosis 8 Otosclerosis 10
Otosclerosis, Familial

Diseases related to Otosclerosis 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otosclerosis 9.9

Symptoms & Phenotypes for Otosclerosis 10

Human phenotypes related to Otosclerosis 10:

31
# Description HPO Frequency HPO Source Accession
1 otosclerosis 31 HP:0000362

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, conductive or mixed
absent stapedial reflexes or intraoperative stapes immobility
air-bone gap of greater than 20 db across 0.5 to 2 khz

Clinical features from OMIM®:

615589 (Updated 05-Apr-2021)

Drugs & Therapeutics for Otosclerosis 10

Search Clinical Trials , NIH Clinical Center for Otosclerosis 10

Genetic Tests for Otosclerosis 10

Anatomical Context for Otosclerosis 10

MalaCards organs/tissues related to Otosclerosis 10:

40
Bone

Publications for Otosclerosis 10

Articles related to Otosclerosis 10:

# Title Authors PMID Year
1
A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44. 61 57
21470211 2011
2
Wideband absorbance pattern in adults with otosclerosis and ossicular chain discontinuity. 61
33187789 2020
3
An introduction of genetics in otosclerosis: a systematic review. 61
24170657 2014
4
The pathologic basis of facial nerve stimulation in otosclerosis and multi-channel cochlear implantation. 61
23928519 2013
5
Phenotype of the first otosclerosis family linked to OTSC10. 61
21433022 2011
6
Influence of chronic middle ear diseases on gustatory function: an electrogustometric study. 61
17195745 2007
7
Hearing levels of patients with otosclerosis 10 years after stapedectomy. 61
8464638 1993
8
Juvenile stapedectomy. 61
4006266 1985

Variations for Otosclerosis 10

Expression for Otosclerosis 10

Search GEO for disease gene expression data for Otosclerosis 10.

Pathways for Otosclerosis 10

GO Terms for Otosclerosis 10

Sources for Otosclerosis 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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